Work

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Year: 2018

Type: other

Abstract: Purpose: variants. Methods: . Detailed phenotyping was performed, including clinical evaluation, electroretinography, fundus photography, fundus autofluorescence imaging, and spectral-domain optical coherence tomography. Results: in samples from affected individuals. Conclusions: and any phenotype-genotype correlation associated with residual levels of the wild-type transcript.

Source: PubMed

Authors: Alessia Fiorentino, Jing Yu, Gavin Arno, Nikolas Pontikos, Stephanie Halford, Suzanne Broadgate, Michel Michaelides, Keren J Carss, F Lucy Raymond, Michael E Cheetham, Andrew R Webster, Susan M Downes, Alison J Hardcastle

Institutions: University College London, John Radcliffe Hospital, University of Oxford, Moorfields Eye Hospital, NHS Blood and Transplant, University of Cambridge, Cambridge University Hospitals NHS Foundation Trust, NIHR BioResource

Language: English

Topic: Retinal Development and Disorders

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2909496138

Cites: 19

Cited by: 10

Related to: 10